rs137852643

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs137852643(C;C)

Make rs137852643(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

30609729

Gene

GARS

is a	snp
is	mentioned by
dbSNP	rs137852643
dbSNP (classic)	rs137852643
ClinGen	rs137852643
ebi	rs137852643
HLI	rs137852643
Exac	rs137852643
Gnomad	rs137852643
Varsome	rs137852643
LitVar	rs137852643
Map	rs137852643
PheGenI	rs137852643
Biobank	rs137852643
1000 genomes	rs137852643
hgdp	rs137852643
ensembl	rs137852643
geneview	rs137852643
scholar	rs137852643
google	rs137852643
pharmgkb	rs137852643
gwascentral	rs137852643
openSNP	rs137852643
23andMe	rs137852643
SNPshot	rs137852643
SNPdbe	rs137852643
MSV3d	rs137852643
GWAS Ctlg	rs137852643

Max Magnitude

0

OMIM	600287
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852643(C;C)
Alt	rs137852643(C;C)
Reference	Rs137852643(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2D not provided
Variation	info
Gene	GARS
CLNDBN	Charcot-Marie-Tooth disease type 2D not provided
Reversed	0
HGVS	NC_000007.13:g.30649345G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009782.4, RCV000327196.1,